Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
---|---|---|---|---|---|---|---|---|---|
Yes
|
n.a.
|
n.a.
|
GBR
|
n.a.
|
n.a.
|
No
|
Central motor conduction time abnormality
Spasticity, lower limb Peripheral neuropathy on nerve conduction studies Nerve conduction studies other abnormalities Show more (+1) |
n.a.
|
|
Yes
|
n.a.
|
n.a.
|
GBR
|
n.a.
|
n.a.
|
No
|
Spasticity, lower limb
|
n.a.
|
|
Yes
|
n.a.
|
n.a.
|
GBR
|
n.a.
|
n.a.
|
No
|
Spasticity, lower limb
Cognitive impairment |
n.a.
|
|
Yes
|
n.a.
|
n.a.
|
GBR
|
n.a.
|
n.a.
|
No
|
Spasticity, lower limb
Central motor conduction time abnormality |
n.a.
|
|
Yes
|
n.a.
|
n.a.
|
GBR
|
n.a.
|
n.a.
|
No
|
Central motor conduction time abnormality
Spasticity, lower limb Peripheral neuropathy on nerve conduction studies Nerve conduction studies other abnormalities Show more (+1) |
n.a.
|
|
Yes
|
n.a.
|
n.a.
|
GBR
|
n.a.
|
n.a.
|
No
|
Seizures
Cognitive impairment Spasticity, lower limb |
n.a.
|
|
Yes
|
n.a.
|
n.a.
|
GBR
|
n.a.
|
n.a.
|
No
|
Spasticity, lower limb
Psychosis |
n.a.
|
|
Yes
|
n.a.
|
n.a.
|
GBR
|
n.a.
|
n.a.
|
No
|
Pes cavus
Dystonia (any or unspecified) Spasticity, lower limb |
n.a.
|
|
Yes
|
n.a.
|
n.a.
|
GBR
|
n.a.
|
n.a.
|
No
|
Nerve conduction studies other abnormalities
Peripheral neuropathy on nerve conduction studies Central motor conduction time abnormality Spasticity, lower limb Show more (+1) |
n.a.
|
|
Yes
|
n.a.
|
n.a.
|
GBR
|
n.a.
|
n.a.
|
No
|
Peripheral neuropathy on nerve conduction studies
Nerve conduction studies other abnormalities Spasticity, lower limb |
n.a.
|
|
Yes
|
n.a.
|
n.a.
|
GBR
|
n.a.
|
n.a.
|
No
|
Spasticity, lower limb
Cognitive impairment Mri brain other abnormalities |
n.a.
|
|
Yes
|
n.a.
|
n.a.
|
GBR
|
n.a.
|
n.a.
|
No
|
Spasticity, lower limb
|
n.a.
|
|
Yes
|
n.a.
|
n.a.
|
GBR
|
n.a.
|
n.a.
|
No
|
Seizures
Spasticity, lower limb Nerve conduction studies other abnormalities Peripheral neuropathy on nerve conduction studies Central motor conduction time abnormality Show more (+2) |
n.a.
|
|
Yes
|
n.a.
|
n.a.
|
GBR
|
n.a.
|
n.a.
|
No
|
Spasticity, lower limb
|
n.a.
|
|
Yes
|
n.a.
|
n.a.
|
GBR
|
n.a.
|
n.a.
|
No
|
Spasticity, lower limb
|
n.a.
|
|
Yes
|
n.a.
|
n.a.
|
GBR
|
n.a.
|
n.a.
|
No
|
Seizures
Central motor conduction time abnormality Nerve conduction studies other abnormalities Cognitive impairment Dysphagia Spasticity, lower limb Peripheral neuropathy on nerve conduction studies Show more (+4) |
n.a.
|
|
Yes
|
n.a.
|
n.a.
|
GBR
|
n.a.
|
n.a.
|
No
|
Spasticity, lower limb
Gait ataxia Ophthalmoplegia |
n.a.
|
|
Yes
|
n.a.
|
n.a.
|
GBR
|
n.a.
|
n.a.
|
No
|
Nerve conduction studies other abnormalities
Central motor conduction time abnormality Peripheral neuropathy on nerve conduction studies Spasticity, lower limb Show more (+1) |
n.a.
|
|
Yes
|
n.a.
|
n.a.
|
GBR
|
n.a.
|
n.a.
|
No
|
Spasticity, lower limb
|
n.a.
|
|
Yes
|
n.a.
|
n.a.
|
GBR
|
n.a.
|
n.a.
|
No
|
Seizures
Spasticity, lower limb |
n.a.
|
|
Yes
|
n.a.
|
n.a.
|
GBR
|
n.a.
|
n.a.
|
No
|
Peripheral neuropathy on nerve conduction studies
Cognitive impairment Central motor conduction time abnormality Spasticity, lower limb Show more (+1) |
n.a.
|